Mutations in GJB6 cause hidrotic ectodermal dysplasia

被引：191

作者：

Lamartine, J

Essenfelder, GM

Kibar, Z

Lanneluc, I

Callouet, E

Laoudj, D

Lemaître, G

Hand, C

Hayflick, SJ

Zonana, J

Antonarakis, S

Radhakrishna, U

Kelsell, DP

Christianson, AL

Pitaval, A

Der Kaloustian, V

Fraser, C

Blanchet-Bardon, C

Rouleau, GA

Waksman, G

机构：

[1] Univ Evry, CEA, Lab Genom & Radiobiol Keratinocyte, Serv Genom Fonct,Dept Radiobiol & Radiopathol, Evry, France

[2] McGill Univ, Ctr Res Neurosci, Montreal, PQ H3A 2T5, Canada

[3] Montreal Gen Hosp, Res Inst, Montreal, PQ H3G 1A4, Canada

[4] Genethon, Evry, France

[5] Oregon Hlth Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA

[6] Univ Geneva, Sch Med, Div Med Genet, CH-1211 Geneva, Switzerland

[7] Univ Hosp Geneva, Geneva, Switzerland

[8] St Bartholomews & Royal London Hosp, Ctr Cutaneous Res, London, England

[9] Univ Pretoria, Fac Med, Dept Human Genet & Dev Biol, ZA-0002 Pretoria, South Africa

[10] Montreal Childrens Hosp, Div Med Genet, F Clarke Fraser Clin Genet Unit, Montreal, PQ H3H 1P3, Canada

[11] Hop St Louis, Inst Rech Peau, Paris, France

来源：

NATURE GENETICS | 2000年 / 26卷 / 02期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1038/79851

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：142 / 144

页数：3

共 15 条

[1] HYDROTIC ECTODERMAL DYSPLASIA - A CLINICAL AND ULTRASTRUCTURAL OBSERVATION [J].

ANDO, Y ;

TANAKA, T ;

HORIGUCHI, Y ;

IKAI, K ;

TOMONO, H .

DERMATOLOGICA, 1988, 176 (04) :205-211

[2]

Clouston HR, 1929, CAN MED ASSOC J, V21, P18

[3] Molecular cloning and functional expression of mouse connexin-30, a gap junction gene highly expressed in adult brain and skin [J].

Dahl, E ;

Manthey, D ;

Chen, Y ;

Schwarz, HJ ;

Chang, YS ;

Lalley, PA ;

Nicholson, BJ ;

Willecke, K .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (30) :17903-17910

[4] Connexin 26 gene linked to a dominant deafness [J].

Denoyelle, F ;

Lina-Granade, G ;

Plauchu, H ;

Bruzzone, R ;

Chaïb, H ;

Lévi-Acobas, F ;

Weil, D ;

Petit, C .

NATURE, 1998, 393 (6683) :319-320

[5] Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus [J].

Grifa, A ;

Wagner, CA ;

D'Ambrosio, L ;

Melchionda, S ;

Bernardi, F ;

Lopez-Bigas, N ;

Rabionet, R ;

Arbones, M ;

Della Monica, M ;

Estivill, X ;

Zelante, L ;

Lang, F ;

Gasparini, P .

NATURE GENETICS, 1999, 23 (01) :16-18

[6] Connexin 26 mutations in hereditary non-syndromic sensorineural deafness [J].

Kelsell, DP ;

Dunlop, J ;

Stevens, HP ;

Lench, NJ ;

Liang, JN ;

Parry, G ;

Mueller, RF ;

Leigh, IM .

NATURE, 1997, 387 (6628) :80-83

[7] Clouston hidrotic ectodermal dysplasia (HED):: genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping [J].

Kibar, Z ;

Dubé, MP ;

Powell, J ;

McCuaïg, C ;

Hayflick, SJ ;

Zonana, J ;

Hovnanian, A ;

Radhakrishna, U ;

Antonarakis, SE ;

Benohanian, A ;

Sheeran, AD ;

Stephan, ML ;

Gosselin, R ;

Kelsell, DP ;

Christianson, AL ;

Fraser, FC ;

Kaloustian, VMD ;

Rouleau, GA .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (05) :372-380

[8] The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q [J].

Kibar, Z ;

DerKaloustian, VM ;

Brais, B ;

Hani, V ;

Fraser, FC ;

Rouleau, GA .

HUMAN MOLECULAR GENETICS, 1996, 5 (04) :543-547

[9] Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family [J].

Lamartine, J ;

Laoudj, D ;

Blanchet-Bardon, C ;

Kibar, Z ;

Soularue, P ;

Ridoux, V ;

Dubertret, L ;

Rouleau, GA ;

Waksman, G .

BRITISH JOURNAL OF DERMATOLOGY, 2000, 142 (02) :248-252

[10] A 1.5-mb physical map of the hidrotic ectodermal dysplasia (Clouston syndrome) gene region on human chromosome 13q11 [J].

Lamartine, J ;

Pitaval, A ;

Soularue, P ;

Lanneluc, I ;

Lemaître, G ;

Kibar, Z ;

Rouleau, GA ;

Waksman, G .

GENOMICS, 2000, 67 (02) :232-236

← 1 2 →